LOCUS       NM_001902               2090 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens cystathionine gamma-lyase (CTH), transcript variant 1,
            mRNA.
ACCESSION   NM_001902
VERSION     NM_001902.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2090)
  AUTHORS   Fu,H., Han,X., Guo,W., Zhao,X., Yu,C., Zhao,W., Feng,S., Wang,J.,
            Zhang,Z., Lei,K., Li,M. and Wang,T.
  TITLE     Cystathionine-gamma-lyase contributes to tamoxifen resistance, and
            the compound I194496 alleviates this effect by inhibiting the
            PPARgamma/ACSL1/STAT3 signalling pathway in oestrogen
            receptor-positive breast cancer
  JOURNAL   Sci Rep 14 (1), 22988 (2024)
   PUBMED   39362925
  REMARK    GeneRIF: Cystathionine-gamma-lyase contributes to tamoxifen
            resistance, and the compound I194496 alleviates this effect by
            inhibiting the PPARgamma/ACSL1/STAT3 signalling pathway in
            oestrogen receptor-positive breast cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2090)
  AUTHORS   Qu,H., Liang,Y., Guo,Q., Lu,L., Yang,Y., Xu,W., Zhang,Y. and Qin,Y.
  TITLE     Identifying CTH and MAP1LC3B as ferroptosis biomarkers for
            prognostic indication in gastric cancer decoding
  JOURNAL   Sci Rep 14 (1), 4352 (2024)
   PUBMED   38388661
  REMARK    GeneRIF: Identifying CTH and MAP1LC3B as ferroptosis biomarkers for
            prognostic indication in gastric cancer decoding.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2090)
  AUTHORS   Alam,S., Pardue,S., Shen,X., Glawe,J.D., Yagi,T., Bhuiyan,M.A.N.,
            Patel,R.P., Dominic,P.S., Virk,C.S., Bhuiyan,M.S., Orr,A.W.,
            Petit,C., Kolluru,G.K. and Kevil,C.G.
  TITLE     Hypoxia increases persulfide and polysulfide formation by AMP
            kinase dependent cystathionine gamma lyase phosphorylation
  JOURNAL   Redox Biol 68, 102949 (2023)
   PUBMED   37922764
  REMARK    GeneRIF: Hypoxia increases persulfide and polysulfide formation by
            AMP kinase dependent cystathionine gamma lyase phosphorylation.
REFERENCE   4  (bases 1 to 2090)
  AUTHORS   Liu,Z.J. and Ma,Y.N.
  TITLE     [Exploration of cystathionine beta-synthase and cystathionine
            gamma-lyase gene expression poor prognostic predictive value with
            the application of bioinformatics data mining in liver cancer]
  JOURNAL   Zhonghua Gan Zang Bing Za Zhi 31 (11), 1169-1175 (2023)
   PUBMED   38238950
  REMARK    GeneRIF: [Exploration of cystathionine beta-synthase and
            cystathionine gamma-lyase gene expression poor prognostic
            predictive value with the application of bioinformatics data mining
            in liver cancer].
REFERENCE   5  (bases 1 to 2090)
  AUTHORS   Hu,J., Leisegang,M.S., Looso,M., Drekolia,M.K., Wittig,J.,
            Mettner,J., Karantanou,C., Kyselova,A., Dumbovic,G., Li,X., Li,Y.,
            Guenther,S., John,D., Siragusa,M., Zukunft,S., Oo,J.A., Wittig,I.,
            Hille,S., Weigert,A., Knapp,S., Brandes,R.P., Muller,O.J.,
            Papapetropoulos,A., Sigala,F., Dobreva,G., Kojonazarov,B.,
            Fleming,I. and Bibli,S.I.
  TITLE     Disrupted Binding of Cystathionine gamma-Lyase to p53 Promotes
            Endothelial Senescence
  JOURNAL   Circ Res 133 (10), 842-857 (2023)
   PUBMED   37800327
  REMARK    GeneRIF: Disrupted Binding of Cystathionine gamma-Lyase to p53
            Promotes Endothelial Senescence.
REFERENCE   6  (bases 1 to 2090)
  AUTHORS   Yang,G., Cao,K., Wu,L. and Wang,R.
  TITLE     Cystathionine gamma-lyase overexpression inhibits cell
            proliferation via a H2S-dependent modulation of ERK1/2
            phosphorylation and p21Cip/WAK-1
  JOURNAL   J Biol Chem 279 (47), 49199-49205 (2004)
   PUBMED   15347670
  REMARK    GeneRIF: Cystathionine gamma-lyase has a role in regulating cell
            proliferation via a H2S-dependent modulation of ERK1/2
            phosphorylation and p21Cip/WAK-1
REFERENCE   7  (bases 1 to 2090)
  AUTHORS   Wang,J., Huff,A.M., Spence,J.D. and Hegele,R.A.
  TITLE     Single nucleotide polymorphism in CTH associated with variation in
            plasma homocysteine concentration
  JOURNAL   Clin Genet 65 (6), 483-486 (2004)
   PUBMED   15151507
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 2090)
  AUTHORS   Wang,J. and Hegele,R.A.
  TITLE     Genomic basis of cystathioninuria (MIM 219500) revealed by multiple
            mutations in cystathionine gamma-lyase (CTH)
  JOURNAL   Hum Genet 112 (4), 404-408 (2003)
   PUBMED   12574942
  REMARK    GeneRIF: two nonsense mutations, namely exon 8 c.940-941delCT and
            exon 11 c.1220delC, and two missense mutations, namely exon 2
            c.356C>T (T67I) and exon 7 c.874C>G (Q240E)were found in four
            probands with cystathioninuria
REFERENCE   9  (bases 1 to 2090)
  AUTHORS   Steegborn,C., Clausen,T., Sondermann,P., Jacob,U., Worbs,M.,
            Marinkovic,S., Huber,R. and Wahl,M.C.
  TITLE     Kinetics and inhibition of recombinant human cystathionine
            gamma-lyase. Toward the rational control of transsulfuration
  JOURNAL   J Biol Chem 274 (18), 12675-12684 (1999)
   PUBMED   10212249
REFERENCE   10 (bases 1 to 2090)
  AUTHORS   Lu,Y., O'Dowd,B.F., Orrego,H. and Israel,Y.
  TITLE     Cloning and nucleotide sequence of human liver cDNA encoding for
            cystathionine gamma-lyase
  JOURNAL   Biochem Biophys Res Commun 189 (2), 749-758 (1992)
   PUBMED   1339280
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB466459.1, BC015807.2 and
            AL354872.9.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_001902.5.
            
            Summary: This gene encodes a cytoplasmic enzyme in the
            trans-sulfuration pathway that converts cystathione derived from
            methionine into cysteine. Glutathione synthesis in the liver is
            dependent upon the availability of cysteine. Mutations in this gene
            cause cystathioninuria. Alternative splicing of this gene results
            in three transcript variants encoding different isoforms. [provided
            by RefSeq, Jun 2010].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1) of this protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.57166.1,
                                           SRR1803616.66030.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370938.8/ ENSP00000359976.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 DB466459.1         55-58
            5-1809              BC015807.2         1-1805
            1810-2090           AL354872.9         45135-45415
FEATURES             Location/Qualifiers
     source          1..2090
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.1"
     gene            1..2090
                     /gene="CTH"
                     /gene_synonym="CGL; CSE"
                     /note="cystathionine gamma-lyase"
                     /db_xref="GeneID:1491"
                     /db_xref="HGNC:HGNC:2501"
                     /db_xref="MIM:607657"
     exon            1..316
                     /gene="CTH"
                     /gene_synonym="CGL; CSE"
                     /inference="alignment:Splign:2.1.0"
     CDS             149..1366
                     /gene="CTH"
                     /gene_synonym="CGL; CSE"
                     /EC_number="4.4.1.1"
                     /EC_number="4.4.1.2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     homoserine deaminase; homoserine dehydratase; cysteine
                     desulfhydrase; cystathionase (cystathionine gamma-lyase);
                     gamma-cystathionase; cysteine-protein sulfhydrase;
                     homocysteine desulfhydrase"
                     /codon_start=1
                     /product="cystathionine gamma-lyase isoform 1"
                     /protein_id="NP_001893.2"
                     /db_xref="CCDS:CCDS650.1"
                     /db_xref="GeneID:1491"
                     /db_xref="HGNC:HGNC:2501"
                     /db_xref="MIM:607657"
                     /translation="MQEKDASSQGFLPHFQHFATQAIHVGQDPEQWTSRAVVPPISLS
                     TTFKQGAPGQHSGFEYSRSGNPTRNCLEKAVAALDGAKYCLAFASGLAATVTITHLLK
                     AGDQIICMDDVYGGTNRYFRQVASEFGLKISFVDCSKIKLLEAAITPETKLVWIETPT
                     NPTQKVIDIEGCAHIVHKHGDIILVVDNTFMSPYFQRPLALGADISMYSATKYMNGHS
                     DVVMGLVSVNCESLHNRLRFLQNSLGAVPSPIDCYLCNRGLKTLHVRMEKHFKNGMAV
                     AQFLESNPWVEKVIYPGLPSHPQHELVKRQCTGCTGMVTFYIKGTLQHAEIFLKNLKL
                     FTLAESLGGFESLAELPAIMTHASVLKNDRDVLGISDTLIRLSVGLEDEEDLLEDLDQ
                     ALKAAHPPSGSHS"
     exon            317..398
                     /gene="CTH"
                     /gene_synonym="CGL; CSE"
                     /inference="alignment:Splign:2.1.0"
     exon            399..494
                     /gene="CTH"
                     /gene_synonym="CGL; CSE"
                     /inference="alignment:Splign:2.1.0"
     exon            495..604
                     /gene="CTH"
                     /gene_synonym="CGL; CSE"
                     /inference="alignment:Splign:2.1.0"
     exon            605..736
                     /gene="CTH"
                     /gene_synonym="CGL; CSE"
                     /inference="alignment:Splign:2.1.0"
     exon            737..794
                     /gene="CTH"
                     /gene_synonym="CGL; CSE"
                     /inference="alignment:Splign:2.1.0"
     exon            795..872
                     /gene="CTH"
                     /gene_synonym="CGL; CSE"
                     /inference="alignment:Splign:2.1.0"
     exon            873..1025
                     /gene="CTH"
                     /gene_synonym="CGL; CSE"
                     /inference="alignment:Splign:2.1.0"
     exon            1026..1147
                     /gene="CTH"
                     /gene_synonym="CGL; CSE"
                     /inference="alignment:Splign:2.1.0"
     exon            1148..1200
                     /gene="CTH"
                     /gene_synonym="CGL; CSE"
                     /inference="alignment:Splign:2.1.0"
     exon            1201..1339
                     /gene="CTH"
                     /gene_synonym="CGL; CSE"
                     /inference="alignment:Splign:2.1.0"
     exon            1340..2090
                     /gene="CTH"
                     /gene_synonym="CGL; CSE"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1753
                     /gene="CTH"
                     /gene_synonym="CGL; CSE"
                     /note="major polyA site"
     regulatory      1786..1791
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTH"
                     /gene_synonym="CGL; CSE"
                     /note="hexamer: ATTAAA"
     polyA_site      1809
                     /gene="CTH"
                     /gene_synonym="CGL; CSE"
                     /note="major polyA site"
     polyA_site      1832
                     /gene="CTH"
                     /gene_synonym="CGL; CSE"
     regulatory      1894..1899
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTH"
                     /gene_synonym="CGL; CSE"
                     /note="hexamer: AATAAA"
     polyA_site      1915
                     /gene="CTH"
                     /gene_synonym="CGL; CSE"
ORIGIN      
        1 gccgctttag tgcgctcgcc gtcggctcta cctgcgtgct ttagctcctt ctcgcctgat
       61 ccttctgtct ctcccaaccc cggacacccg gcttcgactg gttatatctt cggtgttctt
      121 ttcctctctt cttctttcgc ggttcagcat gcaggaaaaa gacgcctcct cacaaggttt
      181 cctgccacac ttccaacatt tcgccacgca ggcgatccat gtgggccagg atccagagca
      241 atggacctcc agggctgtag tgccccccat ctcactgtcc accacgttca agcaaggggc
      301 gcctggccag cactcgggtt ttgaatatag ccgttctgga aatcccacta ggaattgcct
      361 tgaaaaagca gtggcagcac tggatggggc taagtactgt ttggcctttg cttcaggttt
      421 agcagccact gtaactatta cccatctttt aaaagcagga gaccaaatta tttgtatgga
      481 tgatgtgtat ggaggtacaa acaggtactt caggcaagtg gcatctgaat ttggattaaa
      541 gatttctttt gttgattgtt ccaaaatcaa attactagag gcagcaatta caccagaaac
      601 caagcttgtt tggatcgaaa cccccacaaa ccccacccag aaggtgattg acattgaagg
      661 ctgtgcacat attgtccata agcatggaga cattattttg gtcgtggata acacttttat
      721 gtcaccatat ttccagcgcc ctttggctct gggagctgat atttctatgt attctgcaac
      781 aaaatacatg aatggccaca gtgatgttgt aatgggcctg gtgtctgtta attgtgaaag
      841 ccttcataat agacttcgtt tcttgcaaaa ctctcttgga gcagttccat ctcctattga
      901 ttgttacctc tgcaatcgag gtctgaagac tctacatgtc cgaatggaaa agcatttcaa
      961 aaacggaatg gcagttgccc agttcctgga atctaatcct tgggtagaaa aggttattta
     1021 tcctgggctg ccctctcatc cacagcatga gttggtgaag cgtcagtgta caggttgtac
     1081 agggatggtc accttttata ttaagggcac tcttcagcat gctgagattt tcctcaagaa
     1141 cctaaagcta tttactctgg ccgagagctt gggaggattc gaaagccttg ctgagcttcc
     1201 ggcaatcatg actcatgcat cagttcttaa gaatgacaga gatgtccttg gaattagtga
     1261 cacactgatt cgactttctg tgggcttaga ggatgaggaa gacctactgg aagatctaga
     1321 tcaagctttg aaggcagcac accctccaag tggaagtcac agctagtatt ccagagctgc
     1381 tattagaagc tgcttcctgt gaagatcaaa tcttcctgag taattaaatg gaccaacaat
     1441 gagcctttgc aaaattttca agcggaaatt ttaaggcacc tcattatctt tcataactgt
     1501 aattttctta gggatcatct ctgttaaaaa gttttctgta tgtcatgtta taattacagg
     1561 tcaattctgt taatatcttt ttgttaattt tgctctatgt ttgcctctga aggaggtgag
     1621 atttgtgcta ctttgggaga ttatgttctt ttttcatgtc taagatttat tttgatcatg
     1681 tttataatat aatggtaatt catttttgat gttttgtgaa gaatttaaat ttaaacgaat
     1741 gttcttaaat caagtgtgat ttttttgcat atcattgaaa agaacattaa aagcaatggt
     1801 ttacacttag ttaccataag ccgaaaatca aatacttgaa aagtttactg tgaaattcta
     1861 ctgatttaag actatactta atatttttaa aaaaataaat cagctgggcg cggtggctca
     1921 cgcatgtaat gccagcactt ttggaggata aggcgggcgg atcacgaggt caggagattg
     1981 agaccatcct ggctagcgca gtgaaacccc catctctact aaaaatgcaa aaaaaattag
     2041 acggacgtgg tggcgggtgc ctgtagtccc agctacttgg gaggctgagg
//
